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Phelan-McDermid Syndrome

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Phelan-McDermid syndrome is a rare neurodevelopmental syndrome associated with severe intellectual disability, motor delay, and autistic traits. This article reviews a case of a complicated presentation of Phelan-McDermid syndrome and addresses etiology, diagnosis, and management.
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Keywords: 22Q13 DELETION; AUTISM; DEVELOPMENTAL DELAY; PHELAN-MCDERMID SYNDROME

Document Type: Case Report

Publication date: March 1, 2017

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